Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency

Beneficial Effect of Sodium Dichloroacetate in Muscle Cytochrome C Oxidase Deficienc

Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP?

Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome. We observed a clear reduction of NKX2-1 transcript levels in fibroblasts from our patients compared to controls; this finding suggests that MBIP deletion affects NKX2-1 expression, mimicking haploinsufficiency caused by classical NKX2-1 related mutations

Mitochondrial Complex III Deficiency Caused by TTC19 Defects : Report of a Novel Mutation and Review of Literature

We report about a patient with infantile-onset neurodegenerative disease associated with isolated mitochondrial respiratory chain complex III (cIII) deficiency. The boy, now 13 years old, presented with language regression and ataxia at 4 years of age and then showed a progressive course resulting in the loss of autonomous gait and speaking during the following 2 years. Brain MRI disclosed bilateral striatal necrosis. Sequencing of a panel containing nuclear genes associated with cIII deficiency revealed a previously undescribed homozygous rearrangement (c.782_786delinsGAAAAG) in TTC19 gene, which results in a frameshift with premature termination (p.Glu261Glyfs(*)8). TTC19 protein was absent in patient's fibroblasts. TTC19 encodes tetratricopeptide 19, a putative assembly factor for cIII. To date TTC19 mutations have been reported only in few cases, invariably associated with cIII deficiency, but presenting heterogeneous clinical phenotypes. We reviewed the genetic, biochemical, clinical and neuroradiological features of TTC19 mutant patients described to date

Intra-abdominal Adiposity In Preterm Infants: An Explorative Study

Objective: The aim of the present study was to compare the total body fat mass and the intra-abdominal adipose tissue between preterm infants assessed at term corrected age and full-term newborns. Methods: An observational explorative study was conducted. 25 preterm and 10 full term infants were evaluated at 0-1 month of corrected and postnatal age, respectively. The total body fat mass was assessed by means of an air displacement plethysmography system (Pea Pod COSMED, USA) and the intra-abdominal adipose tissue by means of magnetic resonance imaging (software program SliceOMatic, Version 4.3,Tomovision, Canada). Results: Total body fat mass (g) of preterm and term infants was 633 (±183) and 538 (±203) respectively while intra-abdominal fat mass (g) was 14.2 (±4.9) and 19.9 (±11.4). Conclusions: Preterm infants, although exhibiting a total body fat mass higher than full term infants, do not show an increased intra-abdominal adipose tissue

Using olive mill wastewate to improve performance in producing electricity from domestic wastewater by using single-chamber microbial fuel cell

Improving electricity generation from wastewater (DW) by using olive mill wastewater (OMW) was evaluated using single-chamber microbial fuel cells (MFC). Doing so single-chambers air cathode MFCs with platinum anode were fed with domestic wastewater (DW) alone and mixed with OMW at the ratio of 14:1 (w/w). MFCs fed with DW + OMW gave 0.38 V at 1 kO, while power density from polarization curve was of 124.6mW m 2. The process allowed a total reduction of TCOD and BOD5 of 60% and 69%, respectively, recovering the 29% of the coulombic efficiency. The maximum voltage obtained from MFC fed with DW + OMW was 2.9 times higher than that of cell fed with DW. DNA-fingerprinting showed high bacterial diversity for both experiments and the presence on anodes of exoelectrogenic bacteria, such as Geobacter spp. Electrodes selected peculiar consortia and, in particular, anodes of both experiments showed a similar specialization of microbial communities independently by feeding used

Investigation of grain orientations of melt-textured HTSC with addition of uranium oxide, Y2O3 and Y2BaCuO5

Local grain orientations were studied in melt-textured YBCO samples processed with various amounts of depleted uranuim oxide (DU) and Y 2O3 by means of electron backscatter diffraction (EBSD) analysis. The addition of DU leads to the formation of Ucontaining nanoparticles (Y2Ba4CuUOx) with sizes of around 200 nm, embedded in the superconducting Y-123 matrix. The orientation of the Y 2BaCuO5 (Y-211) particles, which are also present in the YBCO bulk microstructure, is generally random as is the case in other melttextured Y-123 samples. The presence of Y-211 particles, however, also affects the orientation of the Y-123 matrix in these samples

Clinical, molecular and glycophenotype insights in SLC39A8-CDG

Background: SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn. Patients with SLC39A8-CDG present with different clinical and neuroradiological features linked to variable transferrin glycosylation profile. Galactose and Mn supplementation therapy results in the biochemical and clinical amelioration of treated patients. Results: Here, we report clinical manifestations, neuroradiological features and glycophenotypes associated with novel SLC39A8 variants (c.1048G > A; p.Gly350Arg and c.131C > G; p.Ser44Trp) in two siblings of the same Italian family. Furthermore, we describe a third patient with overlapping clinical features harbouring the homozygous missense variant A391T. The clinical phenotype of the three patients was characterized by severe developmental disability, dystonic postural pattern and dyskinesia with a more severe progression of the disease in the two affected siblings. Neuroimaging showed a Leigh syndrome-like pattern involving the basal ganglia, thalami and white matter. In the two siblings, atrophic cerebral and cerebellum changes consistent with SLC39A8-CDG were detected as well. Serum transferrin isoelectric focusing (IEF) yielded variable results with slight increase of trisialotransferrin isoforms or even normal pattern. MALDI-MS showed the presence of hypogalactosylated transferrin N-glycans, spontaneously decreasing during the disease course, only in one affected sibling. Total serum N-glycome depicted a distinct pattern for the three patients, with increased levels of undergalactosylated and undersialylated precursors of fully sialylated biantennary glycans, including the monosialo-monogalacto-biantennary species A2G1S1. Conclusions: Clinical, MRI and glycosylation features of patients are consistent with SLC39A8-CDG. We document two novel variants associated with Leigh syndrome-like disease presentation of SLC39A8-CDG. We show, for the first time, a severe neurological phenotype overlapping with that described for SLC39A8-CDG in association with the homozygous A391T missense variant. We observed a spontaneous amelioration of transferrin N-glycome, highlighting the efficacy of MS-based serum glycomics as auxiliary tool for the diagnosis and clinical management of therapy response in patients with SLC39A8-CDG. Further studies are needed to analyse more in depth the influence of SLC39A8 variants, including the common missense variant, on the expression and function of ZIP8 protein, and their impact on clinical, biochemical and neuroradiological features

The Low Frequency Instrument in the ESA Planck mission

Measurements of the cosmic microwave background (CMB) allow high precision observation of the cosmic plasma at redshift z~1100. After the success of the NASA satellite COBE, that in 1992 provided the first detection of the CMB anisotropy, results from many ground-based and balloon-borne experiments have showed a remarkable consistency between different results and provided quantitative estimates of fundamental cosmological properties. During the current year the team of the NASA WMAP satellite has released the first improved full-sky maps of the CMB since COBE, leading to a deeper insight in the origin and evolution of the Universe. The ESA satellite Planck, scheduled for launch in 2007, is designed to provide the ultimate measurement of the CMB temperature anisotropy over the full sky, with an accuracy that will be limited only by astrophysical foregrounds, and robust detection of polarisation anisotropy. Planck will observe the sky with two instruments over a wide spectral band (the Low Frequency Instrument, based on coherent radiometers, from 30 to 70 GHz and the High Frequency Instrument, based on bolometric detectors, from 100 to 857 GHz). The mission performances will improve dramatically the scientific return compared to WMAP. Furthermore the LFI radiometers (as well as some of the HFI bolometers) are intrinsically sensitive to polarisation so that by combining the data from different receivers it will be possible to measure accurately the E mode and to detect the B mode of the polarisation power spectrum. Planck sensitivity will offer also the possibility to detect the non-Gaussianities imprinted in the CMB.Comment: 4 pages, 2 figures, to appear in "Proc of International Symposium on Plasmas in the Laboratory and in the Universe: new insights and new challenges", September 16-19, 2003, Como, Ital

[Prevalence and duration of breastfeeding during the first six months of life: factors affecting an early cessation].

OBJECTIVES: to assess the mean duration, prevalence and reasons that lead to an early cessation of breastfeeding in a group of healthy term infants in the first six months of life. METHODS: prospective, observational study. One-hundred Caucasian, non smoking mothers, that intended to breastfeed for at least 12 weeks, were enrolled. Information on anthropometric parameters, type of delivery, socio-demographic characteristics, mode of feeding and reasons for stopping breastfeeding have been obtained through three different questionnaires (submitted at enrollment, on the 7th day, at 1, 2, 3 and 6 months). RESULTS: exclusive breastfeeding gradually decreased from the 7th day to the 6th month of life. Most of the mothers stopped breastfeeding during the first month and a half or after 3 months and a half. Two percent of the mothers stopped on the 7th day whereas at 6 months the percentage of cessation was 14%. The cumulative percentage of interruption at 6th month was 45%. Maternal factors, like sore nipples or delayed onset of lactation, were the most frequent reasons that led to an early cessation, while during the following months inadequate breast milk and latch-on problems were predominant. On the other hand, attending a pre-natal course or having a previous successful breastfeeding experience were significantly associated with a long-lasting breastfeeding. CONCLUSIONS: promotion of breastfeeding during the prenatal course and a better support for lactation management during the first months seem to be the areas where more efforts are needed to implement breastfeeding rates